Incidental Mutation 'R4822:Nup155'
ID 371249
Institutional Source Beutler Lab
Gene Symbol Nup155
Ensembl Gene ENSMUSG00000022142
Gene Name nucleoporin 155
Synonyms D930027M19Rik
MMRRC Submission 042438-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4822 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 8138757-8190731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8158010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 489 (V489D)
Ref Sequence ENSEMBL: ENSMUSP00000128819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163765] [ENSMUST00000230017]
AlphaFold Q99P88
Predicted Effect possibly damaging
Transcript: ENSMUST00000163765
AA Change: V489D

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: V489D

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:Nucleoporin_N 77 510 3.5e-105 PFAM
low complexity region 600 619 N/A INTRINSIC
Pfam:Nucleoporin_C 678 1221 3.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229466
Predicted Effect probably benign
Transcript: ENSMUST00000230017
AA Change: V489D

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
Meta Mutation Damage Score 0.6630 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (101/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E8.5. Mice homozygous for a gene trap allele exhibit atria fibrillation associated with shortened action potential duration. [provided by MGI curators]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik C T 14: 70,393,907 (GRCm39) V243I probably benign Het
Acadvl C T 11: 69,902,010 (GRCm39) G485S probably benign Het
Acap3 T A 4: 155,986,908 (GRCm39) probably benign Het
Adamts19 A G 18: 59,023,356 (GRCm39) I250M probably damaging Het
Amacr T A 15: 10,983,496 (GRCm39) I102N probably damaging Het
Apob A G 12: 8,065,741 (GRCm39) T4237A probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bicd1 A T 6: 149,420,752 (GRCm39) probably benign Het
Caskin2 T A 11: 115,698,125 (GRCm39) E49V probably damaging Het
Cemip T A 7: 83,622,449 (GRCm39) I577F probably benign Het
Chrnb1 T C 11: 69,686,501 (GRCm39) S40G possibly damaging Het
Ctif C T 18: 75,654,632 (GRCm39) C298Y probably benign Het
Cul9 A C 17: 46,840,977 (GRCm39) H764Q probably benign Het
Cwf19l2 T A 9: 3,458,839 (GRCm39) C763S probably damaging Het
Dhx57 A T 17: 80,549,596 (GRCm39) probably null Het
Dnaaf10 T A 11: 17,177,165 (GRCm39) N174K probably damaging Het
Dnhd1 G A 7: 105,353,171 (GRCm39) D2775N probably benign Het
Enpp1 A T 10: 24,537,833 (GRCm39) M384K possibly damaging Het
Fat2 T C 11: 55,202,144 (GRCm39) N310S probably benign Het
Fbxw7 A T 3: 84,874,814 (GRCm39) Y232F possibly damaging Het
Fcamr T A 1: 130,740,423 (GRCm39) S281T possibly damaging Het
Gm10762 C T 2: 128,809,106 (GRCm39) W81* probably null Het
Gm5592 A G 7: 40,805,314 (GRCm39) probably benign Het
Gm5745 T C 9: 73,082,980 (GRCm39) noncoding transcript Het
Gm6185 G C 1: 161,040,824 (GRCm39) noncoding transcript Het
Hid1 T A 11: 115,246,125 (GRCm39) N382Y probably damaging Het
Hoxa10 A T 6: 52,209,569 (GRCm39) F68I probably damaging Het
Ift88 T A 14: 57,679,326 (GRCm39) probably null Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Ighv7-2 A C 12: 113,875,892 (GRCm39) L37R probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnn3 G C 3: 89,574,596 (GRCm39) V703L possibly damaging Het
Kiz C A 2: 146,732,989 (GRCm39) S388R probably damaging Het
Klhl20 G A 1: 160,921,333 (GRCm39) Q41* probably null Het
Krt31 T C 11: 99,938,610 (GRCm39) I328V possibly damaging Het
Lama4 A T 10: 38,909,049 (GRCm39) I330L probably benign Het
Lipo2 A T 19: 33,723,151 (GRCm39) S213T probably benign Het
Lrsam1 A T 2: 32,816,804 (GRCm39) I723N probably damaging Het
Man2b2 G A 5: 36,972,865 (GRCm39) R550W probably damaging Het
Map4k5 A T 12: 69,888,758 (GRCm39) L224* probably null Het
Mast3 A G 8: 71,233,010 (GRCm39) S1101P probably damaging Het
Mertk A G 2: 128,643,225 (GRCm39) S875G probably benign Het
Mmel1 A G 4: 154,972,354 (GRCm39) M302V probably benign Het
Mrgpra3 T A 7: 47,239,716 (GRCm39) H70L possibly damaging Het
Myh3 T A 11: 66,979,836 (GRCm39) S592T probably benign Het
Nbeal2 T C 9: 110,465,383 (GRCm39) I451V possibly damaging Het
Obscn T A 11: 58,913,159 (GRCm39) T6300S probably benign Het
Oprm1 A G 10: 6,779,036 (GRCm39) I146V probably damaging Het
Or1ad1 T A 11: 50,875,910 (GRCm39) C127* probably null Het
Or1j4 A G 2: 36,740,888 (GRCm39) M277V probably benign Het
Or4k44 G T 2: 111,367,797 (GRCm39) T279K probably damaging Het
Or5ae1 A C 7: 84,565,634 (GRCm39) I216L possibly damaging Het
Otub1 A T 19: 7,181,794 (GRCm39) D27E probably damaging Het
Pik3ca T C 3: 32,492,131 (GRCm39) V243A probably benign Het
Pla2g12b G A 10: 59,252,336 (GRCm39) probably null Het
Plekha8 A G 6: 54,601,546 (GRCm39) D321G probably damaging Het
Pprc1 T C 19: 46,059,795 (GRCm39) probably benign Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rbms3 C T 9: 116,773,441 (GRCm39) probably benign Het
Rictor T A 15: 6,821,161 (GRCm39) V1495D probably benign Het
Rpl31-ps21 T C 5: 21,324,507 (GRCm39) noncoding transcript Het
Ryr3 A T 2: 112,483,090 (GRCm39) I4219N probably damaging Het
Sbf2 G A 7: 109,977,146 (GRCm39) probably benign Het
Scn10a C T 9: 119,467,738 (GRCm39) A801T probably damaging Het
Scn9a T A 2: 66,314,093 (GRCm39) Y1866F possibly damaging Het
Sec1 A C 7: 45,328,727 (GRCm39) Y107D probably damaging Het
Sema6d C T 2: 124,504,214 (GRCm39) T619M possibly damaging Het
Sh2b3 C A 5: 121,966,618 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,837,413 (GRCm39) V44A probably damaging Het
Slc5a12 T C 2: 110,452,085 (GRCm39) I326T possibly damaging Het
Smarca5 T C 8: 81,435,309 (GRCm39) probably null Het
Smarcd2 A G 11: 106,157,357 (GRCm39) probably null Het
Snrpa1 A T 7: 65,719,321 (GRCm39) probably benign Het
Sptbn5 T G 2: 119,898,449 (GRCm39) K470Q probably benign Het
Stard9 T G 2: 120,526,422 (GRCm39) V893G possibly damaging Het
Stx8 T G 11: 67,864,099 (GRCm39) V53G possibly damaging Het
Sv2c A T 13: 96,122,457 (GRCm39) W440R probably damaging Het
Tcstv2a A T 13: 120,725,686 (GRCm39) T117S probably damaging Het
Tmem181a A T 17: 6,330,940 (GRCm39) I67F probably benign Het
Tmprss7 C T 16: 45,483,679 (GRCm39) C565Y probably damaging Het
Trafd1 A T 5: 121,516,561 (GRCm39) L109H probably damaging Het
Trpv4 A G 5: 114,768,083 (GRCm39) I422T possibly damaging Het
Usp24 T A 4: 106,273,244 (GRCm39) Y2210N probably damaging Het
Vmn1r236 A T 17: 21,507,202 (GRCm39) N107Y probably damaging Het
Vmn2r13 A T 5: 109,321,938 (GRCm39) I253K probably damaging Het
Vmn2r2 T A 3: 64,041,960 (GRCm39) I252F probably damaging Het
Vsig8 A G 1: 172,387,205 (GRCm39) D27G probably damaging Het
Wiz A T 17: 32,575,411 (GRCm39) Y908* probably null Het
Wnk1 A T 6: 119,939,399 (GRCm39) S1113T probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp691 G T 4: 119,027,764 (GRCm39) T156K probably damaging Het
Zfp791 A T 8: 85,837,035 (GRCm39) D276E probably benign Het
Other mutations in Nup155
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Nup155 APN 15 8,150,939 (GRCm39) splice site probably benign
IGL00426:Nup155 APN 15 8,186,278 (GRCm39) makesense probably null
IGL00765:Nup155 APN 15 8,182,712 (GRCm39) missense probably benign 0.16
IGL00936:Nup155 APN 15 8,157,889 (GRCm39) splice site probably benign
IGL01124:Nup155 APN 15 8,183,163 (GRCm39) missense probably damaging 0.97
IGL01739:Nup155 APN 15 8,165,272 (GRCm39) missense probably benign 0.01
IGL02013:Nup155 APN 15 8,143,132 (GRCm39) missense possibly damaging 0.61
IGL02066:Nup155 APN 15 8,187,250 (GRCm39) unclassified probably benign
IGL02231:Nup155 APN 15 8,173,548 (GRCm39) missense probably damaging 1.00
IGL02246:Nup155 APN 15 8,172,486 (GRCm39) missense probably benign
IGL02289:Nup155 APN 15 8,160,977 (GRCm39) missense probably damaging 1.00
IGL02608:Nup155 APN 15 8,138,955 (GRCm39) missense probably benign
IGL02749:Nup155 APN 15 8,163,560 (GRCm39) missense probably damaging 1.00
IGL02813:Nup155 APN 15 8,159,605 (GRCm39) splice site probably benign
IGL03102:Nup155 APN 15 8,176,768 (GRCm39) missense probably benign 0.00
H8930:Nup155 UTSW 15 8,187,142 (GRCm39) missense possibly damaging 0.50
IGL02835:Nup155 UTSW 15 8,172,614 (GRCm39) missense probably damaging 1.00
R0314:Nup155 UTSW 15 8,176,736 (GRCm39) missense probably benign 0.00
R0365:Nup155 UTSW 15 8,161,027 (GRCm39) missense probably damaging 1.00
R0586:Nup155 UTSW 15 8,159,716 (GRCm39) missense probably benign 0.39
R0764:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R0839:Nup155 UTSW 15 8,175,071 (GRCm39) missense possibly damaging 0.48
R0844:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1066:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1067:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1085:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1137:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1162:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1166:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1202:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1203:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1219:Nup155 UTSW 15 8,146,822 (GRCm39) missense possibly damaging 0.80
R1385:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1421:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1448:Nup155 UTSW 15 8,141,890 (GRCm39) missense probably benign 0.44
R1611:Nup155 UTSW 15 8,159,644 (GRCm39) missense probably damaging 1.00
R1836:Nup155 UTSW 15 8,184,464 (GRCm39) missense possibly damaging 0.79
R1863:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1866:Nup155 UTSW 15 8,145,010 (GRCm39) missense probably damaging 1.00
R1894:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1976:Nup155 UTSW 15 8,165,311 (GRCm39) missense probably benign 0.01
R2024:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2026:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2027:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2077:Nup155 UTSW 15 8,172,510 (GRCm39) missense probably damaging 1.00
R2111:Nup155 UTSW 15 8,150,951 (GRCm39) missense probably benign 0.45
R2921:Nup155 UTSW 15 8,183,125 (GRCm39) missense probably damaging 1.00
R2936:Nup155 UTSW 15 8,172,533 (GRCm39) missense possibly damaging 0.89
R3108:Nup155 UTSW 15 8,146,790 (GRCm39) missense probably null 1.00
R3161:Nup155 UTSW 15 8,177,867 (GRCm39) missense possibly damaging 0.56
R3162:Nup155 UTSW 15 8,177,867 (GRCm39) missense possibly damaging 0.56
R3162:Nup155 UTSW 15 8,177,867 (GRCm39) missense possibly damaging 0.56
R3522:Nup155 UTSW 15 8,186,162 (GRCm39) splice site probably benign
R4423:Nup155 UTSW 15 8,150,948 (GRCm39) missense probably damaging 0.99
R4451:Nup155 UTSW 15 8,180,366 (GRCm39) missense probably benign 0.02
R4498:Nup155 UTSW 15 8,183,157 (GRCm39) missense possibly damaging 0.88
R4780:Nup155 UTSW 15 8,187,187 (GRCm39) missense probably benign 0.00
R5013:Nup155 UTSW 15 8,153,722 (GRCm39) missense probably benign 0.00
R5064:Nup155 UTSW 15 8,165,354 (GRCm39) missense probably damaging 1.00
R5172:Nup155 UTSW 15 8,139,026 (GRCm39) missense probably benign 0.06
R5406:Nup155 UTSW 15 8,183,122 (GRCm39) critical splice acceptor site probably null
R5551:Nup155 UTSW 15 8,177,817 (GRCm39) missense probably benign 0.09
R5588:Nup155 UTSW 15 8,148,737 (GRCm39) critical splice donor site probably null
R5977:Nup155 UTSW 15 8,159,721 (GRCm39) critical splice donor site probably null
R6035:Nup155 UTSW 15 8,173,577 (GRCm39) missense probably benign
R6035:Nup155 UTSW 15 8,173,577 (GRCm39) missense probably benign
R6036:Nup155 UTSW 15 8,157,895 (GRCm39) missense probably benign 0.16
R6036:Nup155 UTSW 15 8,157,895 (GRCm39) missense probably benign 0.16
R6085:Nup155 UTSW 15 8,177,842 (GRCm39) missense probably damaging 0.98
R6188:Nup155 UTSW 15 8,139,059 (GRCm39) missense probably damaging 1.00
R6232:Nup155 UTSW 15 8,138,963 (GRCm39) missense probably benign 0.02
R6257:Nup155 UTSW 15 8,180,282 (GRCm39) nonsense probably null
R6262:Nup155 UTSW 15 8,186,225 (GRCm39) missense probably benign 0.03
R6267:Nup155 UTSW 15 8,182,639 (GRCm39) missense probably damaging 1.00
R6296:Nup155 UTSW 15 8,182,639 (GRCm39) missense probably damaging 1.00
R6299:Nup155 UTSW 15 8,157,922 (GRCm39) missense possibly damaging 0.88
R6303:Nup155 UTSW 15 8,147,526 (GRCm39) missense probably damaging 1.00
R6304:Nup155 UTSW 15 8,147,526 (GRCm39) missense probably damaging 1.00
R6763:Nup155 UTSW 15 8,165,379 (GRCm39) nonsense probably null
R6958:Nup155 UTSW 15 8,176,638 (GRCm39) missense probably damaging 1.00
R7088:Nup155 UTSW 15 8,186,177 (GRCm39) missense probably benign 0.11
R7313:Nup155 UTSW 15 8,184,406 (GRCm39) missense probably damaging 0.96
R7451:Nup155 UTSW 15 8,175,091 (GRCm39) nonsense probably null
R7560:Nup155 UTSW 15 8,184,531 (GRCm39) missense probably benign 0.39
R7633:Nup155 UTSW 15 8,138,937 (GRCm39) missense probably damaging 0.99
R7670:Nup155 UTSW 15 8,183,180 (GRCm39) missense probably damaging 0.99
R7726:Nup155 UTSW 15 8,151,623 (GRCm39) missense probably damaging 1.00
R7752:Nup155 UTSW 15 8,145,926 (GRCm39) missense possibly damaging 0.53
R7889:Nup155 UTSW 15 8,150,991 (GRCm39) missense probably damaging 0.98
R7899:Nup155 UTSW 15 8,148,663 (GRCm39) missense probably damaging 1.00
R7901:Nup155 UTSW 15 8,145,926 (GRCm39) missense possibly damaging 0.53
R8429:Nup155 UTSW 15 8,141,904 (GRCm39) missense probably damaging 0.96
R8467:Nup155 UTSW 15 8,151,015 (GRCm39) missense probably benign 0.00
R8507:Nup155 UTSW 15 8,177,044 (GRCm39) nonsense probably null
R8860:Nup155 UTSW 15 8,159,640 (GRCm39) missense possibly damaging 0.96
R8994:Nup155 UTSW 15 8,172,645 (GRCm39) critical splice donor site probably null
R9046:Nup155 UTSW 15 8,157,919 (GRCm39) frame shift probably null
R9086:Nup155 UTSW 15 8,177,830 (GRCm39) missense possibly damaging 0.84
R9500:Nup155 UTSW 15 8,141,800 (GRCm39) missense probably damaging 1.00
RF003:Nup155 UTSW 15 8,148,660 (GRCm39) critical splice acceptor site probably benign
RF048:Nup155 UTSW 15 8,148,660 (GRCm39) critical splice acceptor site probably benign
Z1177:Nup155 UTSW 15 8,149,973 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AAAGCTTTGGCATGTGTGAC -3'
(R):5'- AAGTGGCAGCTGAGAGTATTTG -3'

Sequencing Primer
(F):5'- AAGCTTTGGCATGTGTGACTTCAAC -3'
(R):5'- CAGCTGAGAGTATTTGACAAAAGC -3'
Posted On 2016-03-01